Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
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Article Information
- Received October 22, 2020
- Accepted in final form February 11, 2021
- First Published March 18, 2021.
Author Disclosures
- Kenneth A. Myers, MD, PhD,
- Carla Marini, MD, PhD (carla.marini{at}ospedaliriuniti.marche.it),
- Gemma L. Carvill, PhD (gemma.carvill{at}northwestern.edu),
- Amy McTague, PhD (a.mctague{at}ucl.ac.uk),
- Julie Panetta, MBBS (julpul99{at}gmail.com),
- Chloe Stutterd, MBBS (chloe.stutterd{at}vcgs.org.au),
- Thorsten Stanley, MBChB (thorsten.stanley{at}otago.ac.nz),
- Samantha Marin, MD (smarin2{at}exchange.hsc.mb.ca),
- John Nguyen, BSc (janguyen735{at}gmail.com),
- Carmen Barba, MD, PhD (carmen.barba{at}meyer.it),
- Anna Rosati, MD, PhD (anna.rosati{at}meyer.it),
- Richard H. Scott, MD (richard.scott{at}genomicsengland.co.uk),
- Heather C. Mefford, MD, PhD (hmefford{at}uw.edu),
- Renzo Guerrini, MD, FRCP (r.guerrini{at}meyer.it) and
- Ingrid E. Scheffer, MBBS, PhD (i.scheffer{at}unimelb.edu.au)
- Kenneth A. Myers, MD, PhD,
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(1) Fonds de Recherches du Québec  Santé, 282228 and 295639, principal investigator, 2020-2024
(1) Research Institute of the McGill University Health Centre.
(1) Dravet Canada, (2) Koolen-de Vries Foundation, (3) Savoy Foundation, (4) Citizens United for Research in Epilepsy
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- Carla Marini, MD, PhD (carla.marini{at}ospedaliriuniti.marche.it),
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- Gemma L. Carvill, PhD (gemma.carvill{at}northwestern.edu),
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Contributing Scientific Editor - Epilepsy Currents
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(1) Stoke Therapeutics - Collaborative Research Grant
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(1) NIH (NINDS) New Innovators Award (2) NIH (NINDS) Center without Walls: EpiMVP
(1) Dravet Syndrome Foundation Research Award (2) Chicago Biomedical Consortium Catalyst Award
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- Amy McTague, PhD (a.mctague{at}ucl.ac.uk),
1. Commercial- consultant to Biogen as member of scientific advisory board January 2021 2. Non-profit- kcnt1 foundation (parent group) member of scientific advisory board 3. Non-profit- Apollo London translational research network, member of scientific advisory board
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1. Commercial entity: travel expenses for speaking engagement from Eisai November 2019 2. Commercial identity : honorarium for speaking Biocodex £1000 July 2019 3. Non-profit: honorarium for speaking American Epilepsy Society £358 December 2020
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1. Commercial entity: consultancy for Biogen January 2021
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1. Medical Research Council, MR/T007087/1, Clinician Scientist Fellowship, Principal Investigator. March 2020-March 2024. 2. NIHR Great Ormond Street Hospital Biomedical Research Centre Catalyst Fellowship, Principal Investigator. September 2018- March 2020.
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1. Young Epilepsy bequest. Joint principal investigator. September 2020. 2. Autistica project grant. Co-investigator. September 2020. 3. Rosetrees Trust Seedcorn Award. M810. Principal Investigator. October 2018- April 2020.
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- Julie Panetta, MBBS (julpul99{at}gmail.com),
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- Chloe Stutterd, MBBS (chloe.stutterd{at}vcgs.org.au),
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National Health and Medical Research Council of Australia Postgraduate Scholarship
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- Thorsten Stanley, MBChB (thorsten.stanley{at}otago.ac.nz),
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use of probiotics in prevention of allergy use of probiotics in prevention of mental illness
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advised Nutricia/Danone on allergic implications of changes in formula contents
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- Samantha Marin, MD (smarin2{at}exchange.hsc.mb.ca),
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Speaker honoraria from Biomarin
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- John Nguyen, BSc (janguyen735{at}gmail.com),
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- Carmen Barba, MD, PhD (carmen.barba{at}meyer.it),
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Associate Editor, Epileptic Disorders
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- Anna Rosati, MD, PhD (anna.rosati{at}meyer.it),
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- Richard H. Scott, MD (richard.scott{at}genomicsengland.co.uk),
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- Heather C. Mefford, MD, PhD (hmefford{at}uw.edu),
(1) Professional Advisory Board, Lennox Gastaut Foundation (2) Medical Genetics Advisory Board, Simons SPARK study (3) Scientific Advisory Board, Dravet Syndrome Foundation, SynGAP Research Fund, Coalition to Cure CHD2
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(1) Science Translational Medicine, Associate Scientific Editor 2014-1015 (2) Epilepsy Currents, Clinical Science Editor 2015-present (3) GeneReviews, Molecular Editor, 2016-2017 (4) Human Molecular Genetics Editorial Board, 2017 - present (5) American Journal of Human Genetics, 2018 - present
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1. NIH/NINDS Grant NS069605 2. NIH/NINDS Grant NS068605 3. NIH/NINDS Grant NS077303 4. NIH/NINDS Grant NS077364 5. NIH/NINDS Grant NS077275 6. NIH/NICHD Grant HD000836
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- Renzo Guerrini, MD, FRCP (r.guerrini{at}meyer.it) and
Honoraria for Advisory Board activities and travel related expenses for: (1) Eisai Inc, (2) Novartis, (3) Zogenix, (4) Biomarin, (5) UCB, (6) GW Pharma, (7) Biocodex.
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(1) EISAI: funding for travel. (2) Novartis: funding for travel; (3) UCB: Funding for travel. (3) Biomarin: funding for travel, (4) Novartis: funding for travel, (5) GW funding for travel; (6) Zogenix: funding for traveling and reviewing scientific content of symposia.
(1) Epilepsia: Associate Editor 2006-2013, (2) Progress in Epileptic Disorders, International Advisory Board, 2007- (3) Neuropediatrics, Editorial Board, 2001-2009 (4) Journal of Child Neurology, Editorial Board, 1995-2010, (5) Seizure, Editorial Board 2005-, (6) BMC Medical Genetics,Editorial Board, 2006-, (7) Topics in Epilepsy, Editorial Board, 2009- (8) Journal of Pediatric Epilepsy, Editorial Board, 2011- (9) Epileptic Disorders,Editorial Board, 1999-2012 (10) European Neurological Journal, Editorial Board, 2010- (11) Neurology, Editorial Board, 2013- (12) Journal of Embryology & Developmental Biology, 2016-
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(1) Epilepsy and Movements disorders, Cambridge University Press, 2002, (2) Aicardi's Epilepsy in Children, Lippincott Williams & Wilkins, 2004, (3) Progress in Epileptic Spasms and West Syndrome, John Libbey Eurotext, 2007, (4) Epilepsy and Migraine, John Libbey Eurotext, 2009, (5) The Causes of Epilepsy, Cambridge University Press, 2011. (6) Dravet syndrome, John Libbey Eurotext, 2011. (7) Epilepsy and epileptic seizures, Oxford University Press, 2012. (8) The Causes of Epilepsy 2nd edition, Cambridge University Press, 2019. (9) Epilepsy syndromes in Infancy, Childhood and Adolescence. 6th Edition. John Libbey Eurotext, 2019.
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(1) EU contract number LSH-CT-2006-2011 037315 (EPICURE) FP6 - LIFESCIHEALTH. Subproject Coordinator (2) Tuscany Region. Research Department. Drug treatment and neuroprotection in hypoxic-ischemic brain injury and neonatal infantile seizures. 2010-2013. Project Coordinator. (3) EC PROGRAM Rare disease: use of clinical trial simulation for the choice and optimization of study Design: Era-Net. 2011  2014. Unit Coordinator. (4) EC. Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development. EU PROGRAM: E-RARE2. 2012-2014. Unit Coordinator. (5) EC FP7, 2013-2018. DESIRE: Development and Epilepsy - Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy. Grant Agreement 6602531; Project Coordinator, 2013-2018. Italian Ministry of Health and Tuscany Region: An integrated approach to unravel the genetic causes and molecular pathogenesis of epileptogenic focal cortical dysplasia. RF-2013-02355240. 2016-2019. Project Coordinator. DECODEE-Developmental and epileptic encephalopathies: epidemiology, comorbidities, molecular diagnosis, personalized management, and costs analysis. Health call 2018. Tuscany Region. Active 2020-2023. Project Coordinator.
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Pisa Foundation. Grant Title: Development of technology for the diagnostic characterisation and post-chemotherapy- radiotherapy monitoring of paediatric brain tumours using ultra high field MRI. 2013-2016. Project Coordinator.
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- Ingrid E. Scheffer, MBBS, PhD (i.scheffer{at}unimelb.edu.au)
(1) GSK - Scientific Advisory Board 2018 (2) Xenon Pharmaceuticals - Scientific Advisory Board 2017 (3) BioMarin - Scientific Advisory Board 2017, 2018, 2019, 2020 (4) UCB - Scientific Advisory Board Chair 2017, 2019, 2020 (5) Eisai - Scientific Advisory Board (6) Rogcon - Scientific Advisory Board (7) Zynerba - Scientific Advisory Board 2020 (8) Chiesi - Scientific Advisory Board 2020 (9) Encoded Therapeutics - Scientific Advisory Board 2020 (10) Nutricia - Scientific Advisory Board 2017
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(1) GSK; Travel/Conference expenses. Honoraria, speaker 2017/2018 (2) BioMarin; Honoraria, Travel/Conference expenses 2017/2018/2019/2020/2021 (3) National Research Foundation, Singapore: Travel/conference expenses, honoraria 2018/2019 (4) Athena Diagnostics, Honoraria, Travel/Conference 2018 (5) Eisai: Honoraria, Travel/Conference 2017, 2021 (6) UCB: Travel/Conference (7) Biocodex, Honoraria, Travel/Conference
(1) Neurology, Editorial Board, 2014-present (2) Epilepsy Currents, Editorial Board, 2014-present (3) Epileptic Disorders, Editorial Board, 2006-present (4) Annuals of Neurology, Editorial Board, 2007-2015 (5) Progress in Epileptic Disorders series, Editorial Board, 2005-present (6) Epilepsia, Editorial Board, 2001-2003, 2008-2010
(1) Patent for SCN1A testing held by Bionomics Inc and licensed to various diagnostic companies (WO/2006/133508) (2) Patent for a molecular diagnostic/therapeutic target for benign familial infantile epilepsy (BFIE) [PRRT2] WO/2013/059884 with royalties paid (3) May accrue future revenue on pending patent WO2009/086591: Diagnostic And Therapeutic Methods For EFMR (Epilepsy And Mental Retardation Limited To Females)
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(1) Ovid Therapeutics: 2018 (2) UCB: 2018 (3) Atheneum Partners: 2019 (4) Zynerba Pharmaceuticals: 2019-2020 (5) Bionomics: 2005-2005
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(1) GW Pharmaceuticals: Participated in Epilepsy Drug Consortium 2017/2020 and as a trial investigator 2017/2020 (2) Marinus: trial investigator 2019/2020 (3) Zynerba Pharmaceuticals: trial investigator 2018/2020 (4) UCB: trial investigator 2013/2019 (5) Ovid: trial investigator 2018/2020 (6) Zogenix: trial investigator 2016/2020 (7) Ultragenyx: trial investigator 2018-2019 (8) Eisai: trial investigator (9) Anavex Life Sciences: trial investigator 2020 (10) Encoded Therapeutics: trial investigator 2020 (11) Epygenyx: trial investigator
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(1) National Health and Medical Research Council, Australia: a) CI,Program Grant 2016-2020 b) CI, Practitioner Fellowship 2016-2020 c) CI, Project Grant 2016-2020 d) CI, Centre for Research Excellence Grant, 2016-2021 e) CI, Senior Investigator Fellowship 2020-2024 f) CI, Targeted Call for Research into Preparing Australia for the Genomics Revolution in Health Care 2016-2020 (2) National Institute of Health: a)PI, Centres without Walls funding 'Epi4K' 2016- 2020 (3) Medical Research Future Fund 2017-2021, 2020-2024 (4) Health Research Council New Zealand 2015-2018, 2020-2022 (5) Australian Epilepsy Research Fund 2020-2024
National Health and Medical Research Council
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Patent for a molecular diagnostic/therapeutic target for benign familial infantile epilepsy (BFIE) [PRRT2] WO/2013/059884 with royalties paid
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- From the Research Institute of the McGill University Health Centre (K.M.), Montreal, PQ; Division of Child Neurology (K.M.), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, PQ; Department of Neurology & Neurosurgery (K.M.), Montreal Children's Hospital, McGill University, Montreal, PQ; Child Neurology and Psychiatry (C.M.), Salesi Pediatric Hospital, United Hospitals of Ancona, Ancona, Italy; Division of Genetic Medicine (G.L.C., J.N., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Neurology (A.M.), Great Ormond Street Hospital for Children, London, UK; Developmental Neurosciences Programme (A.M.), UCL Great Ormond Street Institute of Child Health, London, UK; Neurology Network Melbourne (J.P.), Melbourne, Victoria, Australia; Murdoch Children's Research Institute (C.S., I.E.S.), Parkville, Victoria, Australia; Department of Paediatrics and Child Health (T.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Division of Neurology (S.M.), Department of Pediatrics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; Neurology Unit and Neurogenetic Laboratories (C.B., A.R., R.G.), Meyer Children's Hospital, Florence, Italy; Department of Clinical Genetics (R.H.S.), Great Ormond Street Hospital, London, UK; Epilepsy Research Centre (I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics (I.E.S.), Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia; and The Florey Institute of Neuroscience and Mental Health (I.E.S.), Heidelberg, Victoria, Australia.
- Correspondence
Dr. Myers sfuken1{at}gmail.com
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